Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582302G>A , CM000673.2:g.47582302G>A | GRCh38 |
| NC_000011.9:g.47603854G>A , CM000673.1:g.47603854G>A | GRCh37 |
| NC_000011.8:g.47560430G>A | NCBI36 |
| NG_011946.1:g.8293G>A | |
| NG_011946.2:g.8293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.508-47G>A MANE Select | ENSP00000263774.4:n.508-47G>A | |
| ENST00000531351.2:n.1656G>A | ||
| ENST00000677462.1:n.2982-47G>A | ||
| ENST00000678975.1:n.2765-47G>A | ||
| ENST00000263774.8:c.508-47G>A | ENSP00000263774.4:n.508-47G>A | |
| ENST00000524568.1:n.611-47G>A | ||
| ENST00000525212.1:n.163-47G>A | ||
| ENST00000525378.5:n.446-47G>A | ||
| ENST00000527178.1:n.61G>A | ||
| ENST00000533507.5:n.1402-47G>A | ||
| NM_004551.2:c.508-47G>A | NP_004542.1:n.508-47G>A | |
| NM_004551.3:c.508-47G>A MANE Select | NP_004542.1:n.508-47G>A |